Couple creates symposium to discuss their son’s rare syndrome – 03/03/2024 – Balance and Health

The birth of a child with a rare syndrome and all the difficulties and learnings from the experience led a couple of Brazilian businessmen to idealize and co-finance an international symposium that will bring together the greatest researchers in the field to discuss advances in treatment and ways to become make it more accessible.

João, 6, was born with Apert syndrome, a rare genetic condition that leads to the fusion of the bones of the skull, hands and feet. It is part of a group of congenital abnormalities, called syndromic craniosynostosis, which affects one in every 2,500 children.

“When he was born, it was a shock for everyone, including the doctors. It took us three days to get the clinical diagnosis. The genetic diagnosis was a month later”, says his mother Natália Jereissati, 46, daughter of the former senator and former governor from Ceará, Tasso Jereissati (PSDB-CE).

Her husband, Igor Cunha, 52, remembers that, in addition to the scare, it was a period of great uncertainty. “Will he hear?, will he speak?, will he walk?, will he have normal cognitive development? These were questions we asked ourselves and the answers don’t come tomorrow. It takes two, three years to know if everything will work out”, reports the father.

After the diagnosis, the treatment option given by the private hospital where João was born was to perform major surgery on the baby’s head, between six and nine months old, which would require ten days of ICU stay and blood transfusions.

“In the first year, this is the period in which the brain grows the most. You need surgery to make room for this growth, otherwise there is damage to cognitive development. But we missed more precise information, it was a whirlwind of things happening at the same time “, explains Natália.

With the help of family and friends, the couple discovered a center specializing in craniofacial anomalies in the United States, Boston Children’s Hospital, at Harvard University, which offered a less invasive surgery, with just one day of ICU stay and the use of painkillers afterward. -operative.

This protocol, however, provided for the intervention to be carried out before three months. And so it happened. The couple moved to Boston with João and their other two children. “The first year was a great exercise in patience and faith that things would work out”, says the father.

The journey was just beginning. In addition to the surgical intervention on the skull, João also underwent the first surgery to separate the fingers of his hand. There were five more operations, three on a single finger. “It’s the surgery necessary for the child to make the pincer movement. To be able to draw, write”, says the mother.

In this process, the family has been counting on the help of a multidisciplinary team as the syndrome affects several structures of the body. Bone deformities of the skull can affect, for example, the respiratory, hearing and vision systems.

At the moment, João is on a break from surgery, but from pre-adolescence he will undergo other major operations on his face. So far there have been ten interventions in total.

“The bone in the middle of his face is still not in place, there is the issue with his teeth, but, thanks to treatments, the syndrome is now just a detail in his life. He is an intelligent boy, he knows what he wants, he fights” , says Natália.

According to her, this entire journey motivated the beginning of a movement to draw attention to the difficulties in the journey of family members and patients with Apert syndrome, especially due to the lack of diagnosis and treatment. The idea is also to raise awareness in society about the incorporation of advances in assistance in the SUS.

The first step was taken. They designed and are helping to finance an international symposium, on March 14th and 15th, which will take place at the Hospital for Rehabilitation and Craniofacial Anomalies at USP (University of São Paulo), in Bauru, in the interior of São Paulo, a Brazilian reference in the treatment of these syndromes.

The event is in partnership with specialists from Boston Children’s Hospital, one of the most renowned pediatric medical centers in the United States, and Necker Enfants Malades, from Paris (France).

According to doctor Nivaldo Alonso, coordinator of craniofacial surgery at the hospital and one of the panelists, among the challenges in treating syndromic craniosynostosis in Brazil is the integration of medical specialties. “Obstetricians and pediatricians, for example, need to know more about the syndromes, so that diagnosis can happen earlier and earlier.”

For plastic surgeon Cássio Eduardo Raposo do Amaral, vice-president of Hospital Sobrapar, another treatment center that serves the SUS (Unified Health System), the main difficulty parents face is finding a center that offers comprehensive treatment of these syndromes. .

This involves a multidisciplinary team, with neurosurgeons, plastic surgeons, physiotherapists, speech therapists, psychologists, orthodontists, dentists, otorhinolaryngologists, among others.

“In Apert syndrome, there are deformities of the skull, face, hands and feet, but there are also heart and kidney malformations, among others. Often, the patient receives treatment in other regions of the country and ends up being referred to us to perform other surgeries and follow-up.”

The purpose of the symposium is also to discuss different approaches and treatment protocols for these syndromes. “Somewhere in Brazil a child will be born with the syndrome, and people don’t know what it is and how to treat it,” says Cunha, João’s father.

Natalia states that the treatment of the syndrome faces obstacles in the public and private health systems. “In the private system, we didn’t have multidisciplinary support, everything is very fragmented. Each specialist had a different view on the syndrome. It drove us crazy.”

In the SUS, according to her, there is a multidisciplinary approach in specialized centers, but there are insufficient spaces and materials, such as distractors, mechanical devices that gradually pull bone surfaces, allowing stretching and stimulation of bone formation.

“Surgeries are being postponed and this can have a bad effect because there is a certain period to perform them”, says Natália.

The couple has been mapping these bottlenecks and intends to provoke this discussion at the symposium. In addition to doctors and researchers, managers from the Ministry of Health and ANS (National Supplementary Health Agency) are invited.

For Natália and her husband, the lack of reliable and quick information and the underreporting of these syndromes are problems that have a direct impact on assistance. “João, for example, has not yet been notified as a child born with a rare disease. If you can’t measure this, you won’t encourage public policies”, says Cunha.

Learn more about craniosynostosis

What is it?

Congenital abnormality that affects 1 in every 2,500 births. It causes changes in the shape of the skull and can lead to intracranial hypertension, which causes, among other things, headaches, visual changes and impaired learning capacity.

Why does it occur?

It is caused by the premature closure of cranial sutures responsible for the growth of the skull bones. The causes are diverse, such as mechanical force (uterine environment), metabolic disorders and genetic changes, which does not necessarily imply having someone in the family with the malformation.

What types

It can manifest itself in isolation and syndromically, which is when the child is born with craniosynostosis associated with other characteristics. Apert, Crouzon, Muenke, Pfeiffer and Saethre-Chotzen syndromes are the most common examples

How is the diagnosis

Generally, the diagnosis is clinical, carried out based on the evaluation of all the characteristics presented by the child by several professionals. Hence the importance of a center that has multidisciplinary teams. Genetic causes can be identified through DNA testing

What is the treatment like?

There are different protocols, but the important thing is surgical treatment in the first year, preferably up to six months. Craniomaxillofacial surgery, for example, remodels the skull, preventing intracranial hypertension, improving breathing and eye problems.

How to get treatment at SUS in SP

The family must first seek out the basic health network in their municipality, for initial assessment and subsequent referral via Siresp (Computerized Regulatory System of the State of São Paulo) – previously known as Cross. Patients from all over the country can register